List of works - Paolo Fontana

A high quality draft consensus sequence of the genome of a heterozygous grapevine variety

scientific article

A large-scale evaluation of computational protein function prediction

scientific article

A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.

scientific article published on 4 July 2016

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

scientific article published on 30 April 2017

An expanded evaluation of protein function prediction methods shows an improvement in accuracy ⬇️

scientific article

Argot2: a large scale function prediction tool relying on semantic similarity of weighted Gene Ontology terms.

scientific article

Brachydactyly type E in an Italian family with 6p25 trisomy.

scientific article published on 19 January 2017

Characterization of resistance gene analogues (RGAs) in apple (Malus × domestica Borkh.) and their evolutionary history of the Rosaceae family.

scientific article

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

scientific article

Deconstruction of the (paleo)polyploid grapevine genome based on the analysis of transposition events involving NBS resistance genes

scientific article (publication date: 2012)

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

scientific article published on 17 June 2019

Downy mildew resistance induced by Trichoderma harzianum T39 in susceptible grapevines partially mimics transcriptional changes of resistant genotypes

scientific article

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

scientific article published on 28 September 2016

Genome-wide transcriptional analysis of grapevine berry ripening reveals a set of genes similarly modulated during three seasons and the occurrence of an oxidative burst at vèraison

scientific article

Identification of Pyrus single nucleotide polymorphisms (SNPs) and evaluation for genetic mapping in European pear and interspecific Pyrus hybrids

scientific article

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

scientific article published on 15 January 2014

Ontology-oriented retrieval of putative microRNAs in Vitis vinifera via GrapeMiRNA: a web database of de novo predicted grape microRNAs

scientific article published on 29 June 2009

Physical mapping in highly heterozygous genomes: a physical contig map of the Pinot Noir grapevine cultivar

scientific article (publication date: 26 March 2010)

Rapid annotation of anonymous sequences from genome projects using semantic similarities and a weighting scheme in gene ontology

scientific article

Reducing bias in RNA sequencing data: a novel approach to compute counts

scientific article

Ripening and genotype control stilbene accumulation in healthy grapes.

scientific article

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

scientific article

Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

scientific article published on 7 March 2017

The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens

scientific article published on 19 November 2019

The SSEA server for protein secondary structure alignment.

scientific article

The draft genome sequence of European pear (Pyrus communis L. 'Bartlett')

scientific article

The genome of the domesticated apple (Malus × domestica Borkh.)

scientific article

Transcriptome and Cell Physiological Analyses in Different Rice Cultivars Provide New Insights Into Adaptive and Salinity Stress Responses.

scientific article published on 5 March 2018

List of works by Paolo Fontana

A high quality draft consensus sequence of the genome of a heterozygous grapevine variety

A large-scale evaluation of computational protein function prediction

A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

An expanded evaluation of protein function prediction methods shows an improvement in accuracy ⬇️

Argot2: a large scale function prediction tool relying on semantic similarity of weighted Gene Ontology terms.

Brachydactyly type E in an Italian family with 6p25 trisomy.

Characterization of resistance gene analogues (RGAs) in apple (Malus × domestica Borkh.) and their evolutionary history of the Rosaceae family.

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

Deconstruction of the (paleo)polyploid grapevine genome based on the analysis of transposition events involving NBS resistance genes

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

Downy mildew resistance induced by Trichoderma harzianum T39 in susceptible grapevines partially mimics transcriptional changes of resistant genotypes

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

Genome-wide transcriptional analysis of grapevine berry ripening reveals a set of genes similarly modulated during three seasons and the occurrence of an oxidative burst at vèraison

Identification of Pyrus single nucleotide polymorphisms (SNPs) and evaluation for genetic mapping in European pear and interspecific Pyrus hybrids

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

Ontology-oriented retrieval of putative microRNAs in Vitis vinifera via GrapeMiRNA: a web database of de novo predicted grape microRNAs

Physical mapping in highly heterozygous genomes: a physical contig map of the Pinot Noir grapevine cultivar

Rapid annotation of anonymous sequences from genome projects using semantic similarities and a weighting scheme in gene ontology

Reducing bias in RNA sequencing data: a novel approach to compute counts

Ripening and genotype control stilbene accumulation in healthy grapes.

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens

The SSEA server for protein secondary structure alignment.

The draft genome sequence of European pear (Pyrus communis L. 'Bartlett')

The genome of the domesticated apple (Malus × domestica Borkh.)

Transcriptome and Cell Physiological Analyses in Different Rice Cultivars Provide New Insights Into Adaptive and Salinity Stress Responses.